Cutaneous mastocytosis in a child with a de novo GNB1 mutation.

In the last few years, de novo mutations in the GNB1 gene have been found to cause a neurodevelopmental disorder typically characterized by global developmental delay and hypotonia. Only 4 cases of maculopapular cutaneous mastocytosis in children with GNB1 mutations have been reported to date. Here, we describe another case of the condition with concomitant cutaneous mastocytosis.

Cutaneous mastocytosis: A dermatological perspective.

Mastocytosis is a rare disease characterised by expansion and collection of clonal mast cells in various organs including the skin, bone marrow, spleen, lymph nodes and gastrointestinal tract. The prevalence of mastocytosis has been estimated to be one in 10 000, while the estimated incidence is one per 100 000 people per year. Cutaneous mastocytosis is classified into (i) maculopapular cutaneous mastocytosis, also known as urticaria pigmentosa; (ii) diffuse cutaneous mastocytosis; and (iii) mastocytoma of the skin. In adults, cutaneous lesions are usually associated with indolent systemic mastocytosis and have a chronic evolution. Paediatric patients, on the contrary, have often cutaneous manifestations without systemic involvement and usually experience a spontaneous regression. Diagnosis of cutaneous mastocytosis may be challenging due to the rarity of the disease and the overlap of cutaneous manifestations. This short review describes pathogenesis and clinical aspects of cutaneous mastocytosis with a focus on diagnosis and currently available therapies.

Mastocitosis en el embarazo y el parto / Mastocytosis in pregnancy and childbirth

Introducción: La mastocitosis es una enfermedad rara, con una prevalencia de 13/100.000 habitantes. La liberación de mediadores mastocitarios, puede cursar con complicaciones graves durante el embarazo, tanto fetales como maternas. Caso clínico: Primigesta de 36 años diagnosticada de urticaria pigmentosa. La gestación controlada en las consultas de alto riesgo, ha cursado con normalidad, empleándose en el momento del parto premedicación para evitar principalmente shock anafiláctico y muerte materna. Discusión: La mastocitosis no contraindica el embarazo y su curso puede ser muy variado. Las complicaciones de la mastocitosis durante el embarazo pueden suponer un riesgo para el feto (prematuridad, distrés respiratorio, bajo peso, mastocitosis fetal...) y para la madre (shock anafiláctico y muerte). La premedicación en el momento del parto es de gran ayuda

Background: The mastocytosis it's a rare syndrome with a prevalence of 13/100,000, characterized by the accumulation of mast cells in tissues. Mast cell mediator release may cause important damage during pregnancy, to the mother and the fetus. Case report: 36 year old woman, primigravida with Urticaria Pigmentosa. The pregnancy was followed in high risk pregnancy section, and the course ocurred normaly. Premedication was used before the delivery specially to prevent mothers anafilactic shock and death. Discussion: Mastocytosis does not contraindicate de pregnancy. Mastocytosis complications during pregnancy can produce a risk to the fetus (prematurity, respiratory distress, low birth weight, fetal mastocytosis...) and mother (anaphylactic shock and death). Premedication at the time of delivery is helpful

Longitudinal Study of Pediatric Urticaria Pigmentosa.

BACKGROUND/OBJECTIVES: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not been studied. The objective of the current study was to characterize the natural history, triggers, and complications of pediatric UP, identify prognostic indicators, and determine its effect on quality of life. METHODS: Between 2002 and 2007, children with three or more mastocytomas diagnosed by a pediatric dermatologist were recruited during visits at the Children's Hospital of Wisconsin Dermatology Clinic (Milwaukee, WI). Research visits were conducted every 3 years and telephone interviews yearly. The Children's Dermatology Life Quality Index was administered to subjects 4 years of age and older at enrollment. Laboratory test results were collected for subjects younger than 4 years at enrollment. Subjects were followed until UP resolution or study end in August 2015. RESULTS: The final cohort size was 43 subjects followed for a median of 8.1 years. Twenty-six subjects were followed through study completion. At age 12 years, 6 patients had disease resolution and 14 remained active. Patients who had disease resolution before age 12 years were more likely to be male and had fewer years of age and smaller lesions, fewer affected areas, and earlier onset. Common medications and anesthetics resulted in no serious reactions. Hymenoptera stings occurred in 51%, with no reports of anaphylaxis. No patient reported a severe effect on quality of life, with most indicating mild to no effect. CONCLUSION: Severe complications are not common with historically identified triggers. Disease does not resolve before adolescence in most children. UP has a minimal effect on quality of life for most children.

¿Dermatopatología alérgica o una enfermedad rara? / Allergic dermatopathology or a rare disease?

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General Anesthesia in a Patient With Urticaria Pigmentosa Referred for Electroconvulsive Therapy.

Urticaria pigmentosa is a rare disorder characterized by an abnormal systemic proliferation of mast cells. In this condition, various triggers can induce either cutaneous histamine release, resulting in rash, or generalized histamine release, resulting in symptomatic hypotension, syncope, or in its severest form, an anaphylactoid reaction resistant to most resuscitative measures. Many anesthetic agents and adjuncts are known potential triggers, and patients who require surgery or procedures under anesthesia must be managed carefully. In this review, we describe the safe use of general anesthesia for electroconvulsive therapy in a patient with urticaria pigmentosa and discuss the association between psychiatric disorders and mastocytoses.

Actualización en mastocitosis. Parte 1: fisiopatología, clínica y diagnóstico / Update on Mastocytosis (Part 1): Pathophysiology, Clinical Features, and Diagnosis

Las mastocitosis constituyen un grupo heterogéneo de enfermedades caracterizadas por la proliferación clonal de mastocitos en distintos órganos, siendo la localización cutánea la más frecuente. Es «una enfermedad rara o poco frecuente», y afecta a todos los grupos de edad, si bien suele aparecer en la primera década de la vida o entre la segunda y la quinta década de la vida, con una distribución similar por sexos. En los últimos años se han realizado grandes avances en el conocimiento fisiopatogénico del trastorno: las mutaciones somáticas del gen c-kit y la presencia de alteraciones inmunofenotípicas en los mastocitos son elementos importantes en la fisiopatogenia de las mastocitosis. Las manifestaciones clínicas son variadas y las lesiones cutáneas son la clave diagnóstica en la mayoría de los pacientes

Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often affected is the skin. Mastocytosis is a relatively rare disorder that affects both sexes equally. It can occur at any age, although it tends to appear in the first decade of life, or later, between the second and fifth decades. Our understanding of the pathophysiology of mastocytosis has improved greatly in recent years, with the discovery that somatic c-kit mutations and aberrant immunophenotypic features have an important role. The clinical manifestations of mastocytosis are diverse, and skin lesions are the key to diagnosis in most patient

Actualización en mastocitosis. Parte 2: categorías, pronóstico y tratamiento / Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment

Las mastocitosis constituyen un grupo heterogéneo de enfermedades caracterizadas por la proliferación clonal de mastocitos en distintos órganos, siendo la localización cutánea la más frecuente. La Organización Mundial de la Salud (OMS) clasifica las mastocitosis cutáneas en mastocitomas, mastocitosis máculo-papulosas y mastocitosis cutánea difusa, mientras que las formas sistémicas incluyen las mastocitosis indolentes, las agresivas, las asociadas a otra hematopatía monoclonal y la leucemia mastocitaria; el sarcoma mastocitario y el mastocitoma extracutáneo son variantes muy poco frecuentes. Aunque la evolución de la enfermedad en los niños es impredecible, con frecuencia las lesiones desaparecen durante la infancia; en los adultos la enfermedad tiende a persistir. El tratamiento se dirige a controlar las manifestaciones clínicas debidas a la acción de los mediadores mastocitarios, mientras que las formas agresivas requerirán de tratamientos dirigidos a reducir la masa mastocitaria

Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in different organs. The organ most often affected is the skin. The World Health Organization classifies cutaneous mastocytosis into mastocytoma, maculopapular cutaneous mastocytosis, and diffuse mastocytosis. The systemic variants in this classification are as follows: indolent systemic mastocytosis (SM), aggressive SM, SM with an associated clonal hematological non-mast cell lineage disease, mast cell leukemia, mast cell sarcoma, and extracutaneous mastocytoma. The two latest systemic variants are rare. Although the course of disease is unpredictable in children, lesions generally resolve by early adulthood. In adults, however, the disease tends to persist. The goal of treatment should be to control clinical manifestations caused by the release of mast cell mediators and, in more aggressive forms of the disease, to reduce mast cell burd

Avoiding Cardiovascular Collapse: Pediatric Cutaneous Mastocytosis and Anesthetic Challenges.

Mastocytosis includes a spectrum of diseases characterized by abnormal mast cell infiltration in various organs, which can lead to mast cell mediator release and immediate hypersensitivity. We review anesthetic challenges presented by a 6-year-old girl with a history of mast cell mediator release because of the urticaria pigmentosa variant of cutaneous mastocytosis, factor VII deficiency, increasing episodes of urinary tract infections, and pyelonephritis. She underwent spine magnetic resonance imaging, subsequent lumbar laminectomy for fatty filum release, and a cystourethroscopy. Perioperative management included factor VII desensitization, avoidance of triggers, minimizing histamine-releasing medications, mast cell stabilization, and preparation for potential immediate hypersensitivity.

Therapeutic challenge during the long-term follow-up of a patient with indolent systemic mastocytosis with extensive cutaneous involvement.

From a dermatological aspect, it posed a considerable challenge the skin-limited form of mastocytosis, urticaria pigmentosa and indolent systemic mastocytosis (ISM) with cutaneous lesions. Despite the favourable prognosis, lifelong dermatological control is needed, during which the average symptomatic therapy does not always seem adequate. We report here the case of a female ISM patient with recurrent cutaneous symptoms that impaired her quality of life, with a follow-up time of 27 years. During this long follow-up period, the cutaneous lesions could be controlled by antihistamines, leukotriene antagonists, glucocorticoids, local immunosuppressants or local UV radiation for only relatively short periods. Imatinib mesylate was, therefore, introduced in an attempt to control the cutaneous lesions. Tyrosine kinase inhibition is an unusual dermatological therapeutic option. This case illustrates that imatinib mesylate was a good choice with which to achieve a reduction of the skin lesions in this KIT D816V mutation-negative disease: it led to a temporary appreciable improvement of the patient's quality of life.

Urticaria pigmentosa: presentación de un caso / Urticaria pigmentosa: a case report

La urticaria pigmentosa es una de las varias formas de mastocitosis cutáneas, que ocurre donde hay demasiadas células inflamatorias (mastocitos) en la piel. Se observa con mayor frecuencia en niños de 3 meses a 3 años de edad. Se presentó un caso de una paciente lactante de 3 meses de edad, blanca, femenina, con antecedentes de salud. Al examen dermatológico presentó un cuadro cutáneo diseminado por la cara, el tronco y miembros inferiores, excepto palmas y plantas, constituido por pápulas, placas eritematosas amarronadas, con el signo de Darier positivo, como lo describe la literatura, e histopatológicamente con alteraciones propias de la enfermedad, que mostró un infiltrado inflamatorio denso de mastocitos maduros, con distribución liquenoide, situado en la dermis papilar y media, sin localización epidérmica. Un porciento de los niños con mastocitosis cutánea (urticaria pigmentosa) tiene un riesgo muy elevado de presentar un comportamiento clínico severo que, si no remite, tiende a convertirse en sistémica; de ahí la importancia de su seguimiento (AU)

Pigmentosa urticaria is one of the several forms of cutaneous mastocytosis that happen where there are too many inflammatory cells (mastocites) in the skin. It is observed most frequently in children from 3 months to 3 years of age. A case of a breastfeedingof 3 months, feminine, white, with health antecedents was presented. Under the dermatological examination she presented a cutaneous episode scattered by the face, inferior trunk and members, respecting palms and plants, constituted by papules, brownish erythematous blotch, with the sign of positive Darier, and histopathologically with own alterations of the disease, that showed a dense inflammatory infiltrating of mature mast cells, with lichenoide distribution, located in the papillary dermal and media, without epidermic location. Children with cutaneous mastocytosis (urticaria pigmentosa), a percent of them have a very high risk to present a severe clinical behavior, if it does not send, tends to become sistemic, because of this the importance of their monitoring (AU)